Sanfilippo Syndrome, also known as mucopolysaccharidosis type III or MPS III, is a genetic metabolic disease characterized by decreased activity or the absence of an enzyme responsible for degrading part of the long chain sugars, heparan sulfate, causing this substance to be accumulated in the cells and result in neurological symptoms, for example.
The symptoms of Sanfilippo Syndrome progressively evolve, and can be initially perceived through difficulties in concentration and delayed speech development, for example. In more advanced cases of the disease, there may be mental changes and loss of vision, so it is important that the disease is diagnosed in its early stages to prevent the onset of severe symptoms.
Symptoms of Sanfilippo Syndrome
The symptoms of Sanfilippo Syndrome are usually difficult to identify, since they can be confused with other situations, however they can appear in children from 2 years old and vary according to the stage of development of the disease, the main symptoms being:
- Learning difficulty; Difficulty speaking; Frequent diarrhea; Recurrent infections, mainly in the ear; Hyperactivity; Difficulty sleeping; Mild bone deformities; Growth of hair on the back and face of girls; Difficulty concentrating; Enlarged liver and spleen.
In more severe cases, which usually occur in late adolescence and early adulthood, behavioral symptoms start to disappear progressively, however due to the large accumulation of heparan sulfate in the cells, neurodegenerative signs, such as dementia, for example, may appear. other organs may be compromised, resulting in loss of vision and speech, decreased motor skills and loss of balance.
Types of Sanfilippo Syndrome
Sanfilippo Syndrome can be classified into 4 main types according to the enzyme that is nonexistent or has low activity. The main types of this syndrome are:
- Type A or Mucopolysaccharidosis III-A: There is an absence or presence of an altered form of the enzyme heparan-N-sulfatase (SGSH), this form of the disease being considered the most serious and the most common; Type B or Mucopolysaccharidosis III-B: There is a deficiency of the enzyme alpha-N-acetylglucosaminidase (NAGLU); Type C or Mucopolysaccharidosis III-C: There is a deficiency of the enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT); Type D or Mucopolysaccharidosis III-D: There is a deficiency of the enzyme N-acetylglycosamine-6-sulfatase (GNS).
The diagnosis of Sanfilippo Syndrome is made based on the evaluation of the symptoms presented by the patient and the result of laboratory tests. It is generally recommended to perform urine tests to check the concentration of long-chain sugars, blood tests to check the activity of enzymes and check the type of disease, in addition to genetic testing in order to identify the mutation responsible for the disease.
How the treatment is done
Treatment for Sanfilippo Syndrome aims to alleviate symptoms, and it is important to be performed by a multidisciplinary team, that is, composed of a pediatrician or general practitioner, neurologist, orthopedist, ophthalmologist, psychologist, occupational therapist and physiotherapist, for example, that in this syndrome the symptoms are progressive.
When the diagnosis is made in the early stages of the disease, bone marrow transplantation can have positive results. In addition, in the early stages it is possible to avoid that the neurodegenerative symptoms and those related to motricity and speech are very serious, which is why it is important to have physiotherapy and occupational therapy sessions, for example.
In addition, it is important that if there is a family history or the couple is a relative, it is recommended that genetic counseling be done to check the child's risk of having the syndrome. Thus, it is possible to guide the parents about the disease and how to help the child to have a normal life. Understand how genetic counseling is done.
